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Cystinuria Type II-B

Breeds

Relevance Rating: Some evidence for test being meaningful for these breeds

General

Disease Name
Cystinuria Type II-B
Mutation
c.964G>A
Test Type
Genetic Disease/Disorder
Details
Cystinuria is disorder that affects a dog's ability to filter cystine out of urine. Cystine is generally insoluble in the acidic conditions of canine urine, allowing it to crystallize and form caliculi, also known as stones. Not every dog that has the mutation responsible for Cystinuria will exhibit symptoms. Stones causing inflammation and blockage are often more common in males, due to their long, narrow urethra. Females exhibit symptoms much less frequently and may never show signs of disease. In many breeds, symptoms are first noted at around 4-5 years. However, Newfoundlands carry a more severe form that other breeds, with problems developing and noticed at 6-12 months. Newfoundlands are much more likely to experience recurring urethral blockages, and require surgical intervention. Please note that the tests, and type of inheritance, and mutations for Cystinuria vary by breed. It is important to choose a test appropriate for your breed/type.
Details 2
As summarised by Brons et al. (2013), cystinuria type II - A is characterised by: present in males and females; not androgen-dependent; COLA [?mol/g creatinine (normal ?500)] ?8,000 in homozygotes and ?3,000 in heterozygotes (from OMIA)
Published
Brons,A.K.,Henthorn,P.S.,Raj,K.,Fitzgerald,C.A.,Liu,J.,Sewell,A.C.,Giger,U.: SLC3A1andSLC7A9mutationsinautosomalrecessiveordominantcaninecystinuria:anewclassificationsystem.JVetInternMed27:1400-8,2013.Pubmedreference:24001348.DOI:10.1111/jvim.12176.
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